| HGVS (amino-acid) | Matching Registered Transcripts | 
|---|---|
| ENSP00000403821.2:p.Arg272His | 
                     
                       CA341159
                       
                    
                        ENST00000427987.6:c.815G>A
                       
                    
                       CA2582342856
                       
              
                        ENST00000427987.6:c.810_815delinsAAGGCA
                       
                     |